ClinVar Miner

List of variants studied for Multiple congenital anomalies-hypotonia-seizures syndrome 2 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly) rs781095752 0.00001
NM_002641.4(PIGA):c.1087A>G (p.Ile363Val) rs2519324719
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924

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